UBA7 ubiquitin like modifier activating enzyme 7

Information
Symbol
UBA7
Type
protein-coding
Description
ubiquitin like modifier activating enzyme 7
Entrez Gene ID
7318
Genome
hg19
Position
chr3:49,842,642-49,851,386
Genome
hg38
Position
chr3:49,805,209-49,813,953
MIM
191325 OMIM
HGNC
HGNC:12471 HGNC
Ensembl
ENSG00000182179 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 30
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 122
Ranking
ClinVar
0
0
0
160
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM D8
SYNONYM UBA1B
SYNONYM UBE1L
SYNONYM UBE2
SYNONYM UBE7
MIM 191325 OMIM
HGNC HGNC:12471 HGNC
Ensembl ENSG00000182179 Ensembl
AllianceGenome HGNC:12471
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000333486.4 hg38 chr3 49,805,209 49,813,953 8,745
ENST00000333486.4 hg19 chr3 49,842,642 49,851,386 8,745
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